myopathy, congenital, with tremor
MONDO:0032797Mondo
Findings
No curated finding names myopathy, congenital, with tremor yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EMG: myopathic abnormalitiesHPOHP:0003458
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 7 of 7 reported patients
- Axial muscle weaknessHPOHP:0003327
- 6 of 7 reported patients
- Postural tremorHPOHP:0002174
- 6 of 7 reported patients
- ScoliosisHPOHP:0002650
- 5 of 7 reported patients
- High palateHPOHP:0000218
- 3 of 7 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 3 of 7 reported patients
- Scapular wingingHPOHP:0003691
- 3 of 7 reported patients
- Spinal rigidityHPOHP:0003306
- 3 of 7 reported patients
- Tongue tremorHPOHP:0031947
- 3 of 7 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 7 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 7 reported patients
Show the remaining 3
- Prominent nasolabial foldHPOHP:0005272
- 1 of 7 reported patients
- Distal muscle weaknessHPOHP:0002460
- Proximal muscle weaknessHPOHP:0003701
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYBPC1HGNC:7549
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023